Detalhe da pesquisa
1.
Male patients affected by mosaic PCDH19 mutations: five new cases.
Neurogenetics
; 18(3): 147-153, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28669061
2.
Epidemiology, pathophysiology and putative genetic basis of carbamazepine- and oxcarbazepine-induced hyponatremia.
Eur J Neurol
; 23(9): 1393-9, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27333872
3.
Effect of oral contraceptives on lamotrigine levels depends on comedication.
Acta Neurol Scand
; 129(6): 393-8, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24571554
4.
Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders.
Neurogenetics
; 14(1): 23-34, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23334464
5.
Hyperactive behavior in a family with autosomal dominant lateral temporal lobe epilepsy caused by a mutation in the LGI1/epitempin gene.
Epilepsy Behav
; 28(1): 41-6, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23651915
6.
The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q.
Nat Genet
; 6(3): 287-92, 1994 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-8012392
7.
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.
Science
; 277(5327): 805-8, 1997 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-9242607
8.
MSH2 genomic deletions are a frequent cause of HNPCC.
Nat Genet
; 20(4): 326-8, 1998 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-9843200
9.
Familial endometrial cancer in female carriers of MSH6 germline mutations.
Nat Genet
; 23(2): 142-4, 1999 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-10508506
10.
Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia.
J Med Genet
; 43(4): 371-7, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16155196
11.
Large deletion at the TSC1 locus in a family with tuberous sclerosis complex.
Genet Test
; 9(3): 226-30, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-16225402
12.
Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree.
J Med Genet
; 38(5): 318-22, 2001 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-11333868
13.
A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease.
Eur J Hum Genet
; 9(3): 171-7, 2001 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-11313755
14.
Analysis of TSC2 stop codon variants found in tuberous sclerosis patients.
Eur J Hum Genet
; 9(11): 823-8, 2001 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-11781698
15.
A mutation which disrupts the hydrophobic core of the signal peptide of bilirubin UDP-glucuronosyltransferase, an endoplasmic reticulum membrane protein, causes Crigler-Najjar type II.
FEBS Lett
; 390(3): 294-8, 1996 Jul 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-8706880
16.
Pharmacogenetics and drug interactions: role in antiepileptic-drug-induced teratogenesis.
Neurology
; 42(4 Suppl 5): 43-7, 1992 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-1574175
17.
Spectrum of neural-tube defects in 34 infants prenatally exposed to antiepileptic drugs.
Neurology
; 42(4 Suppl 5): 111-8, 1992 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-1574164
18.
Antiepileptic drugs and teratogenesis in two consecutive cohorts: changes in prescription policy paralleled by changes in pattern of malformations.
Neurology
; 42(4 Suppl 5): 94-110, 1992 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-1574185
19.
Ring chromosome 20 epilepsy syndrome in children: electroclinical features.
Neurology
; 57(6): 1108-11, 2001 Sep 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-11571346
20.
Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis.
Neurology
; 58(5): 702-8, 2002 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-11889231